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Case report: A novel mosaic nonsense mutation of PCDH19 in a Chinese male with febrile epilepsy

The clinical features of the PCDH19 gene mutation include febrile epilepsy ranging from mild to severe, with or without intellectual disability, cognitive impairment, and psych-behavioral disorders, but there has been little research on males with the mosaic mutation of PCDH19. This study reported a...

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Detalles Bibliográficos
Autores principales:	Chen, Guilan, Zhou, Hang, Lu, Yan, Wang, You, Li, Yingsi, Xue, Jiaxin, Cheng, Ken, Huang, Ruibin, Han, Jin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Neurology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9556843/ https://www.ncbi.nlm.nih.gov/pubmed/36247776 http://dx.doi.org/10.3389/fneur.2022.992781

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